INDICATIONS FOR PRENATAL KARYOTYPING

Prenatal diagnosis has become a major aid to genetic
counseling and for this, several important areas of technology have evolved,
especially cytogenetic prenatal diagnosis, using analysis of cultured cells
from the amniotic fluid at mid-trimester. Because of its high reliability and
safety record with the lowest fetal loss and embryonic damage, amniocentesis
has become the most common practice for prenatal diagnosis. However, CVS
(chorionic villus sample) has gained popularity as a successful first trimester
prenatal diagnostic technique since the mid 1980s, probably because of the
advantage of establishing a diagnosis some weeks earlier in the pregnancy.
Cordocentesis is a procedure used to obtain a sample from fetal blood directly
from the umbilical cord in cases where amniocentesis is not possible or is used
to give a quick result only in high-risk cases since procedure related
pregnancy loss is high.The paper provides analysis of
results of invasive pre­natal diagnostics (174 cases) performed in the Educational Surgical Clinic of AMU and
Center for Genetic Diagnostics "AFGEN"over 2015-2017. Chromosomal
anomalies were detected at 5,1% of cases. The most frequent pathologies were
Down’s syndrome and balanced translocations. Indications for prenatal diagnosis
were formed on the basis of standard risk factors. The main one was the age of
pregnant women over 35 years old and serum markers of chromosomal
abnormalities. Based on the findings, the author pointed out the necessity of
wider application of invasive prena­tal diagnostics in the region.